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    SMIM2 small integral membrane protein 2 [ Homo sapiens (human) ]

    Gene ID: 79024, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SMIM2provided by HGNC
    Official Full Name
    small integral membrane protein 2provided by HGNC
    Primary source
    HGNC:HGNC:28776
    See related
    Ensembl:ENSG00000226519 AllianceGenome:HGNC:28776
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C13orf44
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 2.8), kidney (RPKM 0.5) and 4 other tissues See more
    Orthologs
    all
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    Genomic context

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    See SMIM2 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (44143150..44161257, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (43362916..43381023, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (44717286..44735393, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370182 Neighboring gene non-coding RNA in the aldehyde dehydrogenase 1A pathway Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:44653586-44654467 Neighboring gene long intergenic non-protein coding RNA 390 Neighboring gene SMIM2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:44715242-44716201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5304 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:44717815-44718009 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:44733325-44734524 Neighboring gene SMIM2 intronic transcript 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:44761946-44763145 Neighboring gene microRNA 8079 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:44805723-44806922 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:44824216-44824392 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:44837776-44838975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7673 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:44880060-44881259 Neighboring gene uncharacterized LOC107984552 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:44886104-44887303

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC5590

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    RNA

    1. NR_197392.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL589745
      Related
      ENST00000400419.3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      44143150..44161257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      43362916..43381023 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024058.3: Suppressed sequence

      Description
      NM_024058.3: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVW6.1 GenPept UniProtKB/Swiss-Prot:Q9BVW6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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